The face analysis program, known as DeepGestalt, could in future assist the diagnosis of rare genetic syndromes, say researchers

Study co-author Dr Karen Gripp, from the US company FDNA which developed the program, said: ‘This is a long-awaited breakthrough in medical genetics that has finally come to fruition.

‘With this study, we’ve shown that adding an automated facial analysis framework, such as DeepGestalt, to the clinical workflow can help achieve earlier diagnosis and treatment, and promise an improved quality of life.’

The team trained the ‘deep learning’ software using more than 17,000 facial images of patients with more than 200 different genetic disorders.

In subsequent tests DeepGestalt successfully included the correct syndrome in its top 10 list of suggestions 91 percent of the time.

The system also out-performed clinical experts in three separate trials.

Many genetic disorders are associated with distinct facial features.

Some are easily recognizable while others are harder to spot.

People with Williams syndrome, for instance, have short, upturned noses and mouths, a small jaw and a large forehead.

Well-known features associated with Down’s syndrome include almond-shaped eyes, a round, flat face, and a small nose and mouth.

Yaron Gurovich, chief technology office at FDNA and first author of the research published in the journal Nature Medicine, said: ‘The increased ability to describe phenotype (physical characteristics) in a standardised way opens the door to future research and applications, and the identification of new genetic syndromes.’

Writing in the journal, the researchers drew attention to the potential risk of abuse of the technology.